Phenotype #0000310046

Individual ID 00418751
Associated disease JBTS
Phenotype details cell line: longer cilia than the controls, but ciliation of fibroblasts not statistically different from the controls; molar tooth sign: present; occipital encephalocele: absent; retinal dystrophy: absent; coloboma: absent; kidney disease: absent; liver fibrosis: absent; polydactyly: absent; other: oculomotor apraxia, tachypnea/apnea), autism, tumor cordis (oculomotor apraxia)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite Joubert syndrome
Age/Examination 14y (14 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-10-05 11:34:13 +02:00 (CEST)
Date last edited N/A

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